D40Y (p.Asp40Tyr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
D40Y (p.Asp40Tyr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D40Y (p.Asp40Tyr) variant details
- p.Asp40Tyr
- rs34959311
- ClinGen CA360864311
- ClinVar RCV002027809
- Ensembl rs34959311
- Uncertain significance
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.82
- MetaSVM 0.83
- CADD 31.00
- ClinVar: Uncertain significance (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)